title: The gene for glycogen-storage disease type 1b maps to chromosome 11q23.
abstract: Glycogen-storage disease type 1 (GSD-1), also known as "von Gierke disease," is caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) activity. There are four distinct subgroups of this autosomal recessive disorder: 1a, 1b, 1c, and 1d. All share the same clinical manifestations, which are caused by abnormalities in the metabolism of glucose-6-phosphate (G6P). However, only GSD-1b patients suffer infectious complications, which are due to both the heritable neutropenia and the functional deficiencies of neutrophils and monocytes. Whereas G6Pase deficiency in GSD-1a patients arises from mutations in the G6Pase gene, this gene is normal in GSD-1b patients, indicating a separate locus for the disorder in the 1b subgroup. We now report the linkage of the GSD-1b locus to genetic markers spanning a 3-cM region on chromosome 11q23. Eventual molecular characterization of this disease will provide new insights into the genetic bases of G6P metabolism and neutrophil-monocyte dysfunction.
authors.affiliation: Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: B
authors.initials: B
authors.lastname: Annabi
authors.forename: H
authors.initials: H
authors.lastname: Hiraiwa
authors.forename: B C
authors.initials: BC
authors.lastname: Mansfield
authors.forename: K J
authors.initials: KJ
authors.lastname: Lei
authors.forename: T
authors.initials: T
authors.lastname: Ubagai
authors.forename: M H
authors.initials: MH
authors.lastname: Polymeropoulos
authors.forename: S W
authors.initials: SW
authors.lastname: Moses
authors.forename: R
authors.initials: R
authors.lastname: Parvari
authors.forename: E
authors.initials: E
authors.lastname: Hershkovitz
authors.forename: H
authors.initials: H
authors.lastname: Mandel
authors.forename: M
authors.initials: M
authors.lastname: Fryman
authors.forename: J Y
authors.initials: JY
authors.lastname: Chou
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D003241:Consanguinity; D005006:Ethnicity; D005190:Family; D005260:Female; D005808:Genes, Recessive; D005819:Genetic Markers; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008861:Microsomes / Q000201:enzymology; D010375:Pedigree; D011110:Polymorphism, Genetic
chemical_list: D005819:Genetic Markers; D005952:Glucose-6-Phosphatase